2 results match your criteria: "lllumina Clinical Services Laboratory[Affiliation]"
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Eur J Hum Genet
August 2024
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Article Synopsis
- Nine out of 19 genes that code for GABA receptor subunits are linked to disorders associated with seizures and developmental issues.
- The study identified three new de novo missense variants in the GABRA4 gene in patients with epilepsy and various neurodevelopmental problems, highlighting a connection between these genetic changes and neurological symptoms.
- Molecular dynamics simulations showed that the mutated GABRA4 subunits behave differently than the normal ones, supporting the role of this gene in causing a range of neurological conditions.
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Am J Med Genet A
December 2023
lllumina Clinical Services Laboratory, Illumina Inc., San Diego, California, USA.
Copy number variants that duplicate distal upstream enhancer elements of the SOX9 gene cause 46,XX testicular differences of sex development (DSD) which is characterized by a 46,XX karyotype in an individual presenting with either ambiguous genitalia or genitalia with varying degrees of virilization, including those resembling typical male genitalia. Reported duplications in this region range in size from 24 to 780 kilobases (kb). Here we report a family with two affected individuals, the proband and his maternal uncle, harboring a 3.
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